Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? (2018)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1590/1678-4685-GMB-2017-0172
- Subjects: SEQUENCIAMENTO GENÉTICO; RETÍCULO ENDOPLASMÁTICO; MUTAÇÃO GENÉTICA; SINAIS E SINTOMAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Ribeirao Pret
- Date published: 2018
- Source:
- Título: Genetics and Molecular Biology
- ISSN: 1415-4757
- Volume/Número/Paginação/Ano: v. 41, n. 1, p. 85-91, 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
CERONI, Jose R. M. et al. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. Genetics and Molecular Biology, v. 41, n. 1, p. 85-91, 2018Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-GMB-2017-0172. Acesso em: 11 fev. 2026. -
APA
Ceroni, J. R. M., Kim, C. A., Yamamoto, G. L., Honjo, R. S., Passos-Bueno, M. R., & Bertola, D. R. (2018). Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genetics and Molecular Biology, 41( 1), 85-91. doi:10.1590/1678-4685-GMB-2017-0172 -
NLM
Ceroni JRM, Kim CA, Yamamoto GL, Honjo RS, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ; 41( 1): 85-91.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2017-0172 -
Vancouver
Ceroni JRM, Kim CA, Yamamoto GL, Honjo RS, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? [Internet]. Genetics and Molecular Biology. 2018 ; 41( 1): 85-91.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2017-0172 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
- Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients
- Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
- Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
- Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome
- Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. [Carta]
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
- Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
- Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
- Brazilian growth charts for Williams- Beuren Syndrome at ages 2 to 18 years
Informações sobre o DOI: 10.1590/1678-4685-GMB-2017-0172 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
